Table 4. Comparison of clinical and hemodynamic features of BMPR2 mutation carriers and non-carriers.
| Country | PAH type | BMPR2 mutation | Male/Female | Age, y | mPAP, mmHg | PVRI, | CI, L/min/m2 | Familial cases, % | Reference |
|---|---|---|---|---|---|---|---|---|---|
| mmHg/L/min/m2 | |||||||||
| Korea | IPAH | Present (N = 16) | 1/3.0 | 27.2±11.1 | 63.7±17.3 | 10.1±2.4 | 2.1±0.4 | - | - |
| Absent (N = 57) | 1/2.8 | 46.6±19.6 | 50.5±15.2 | 8.3±1.1 | 2.3±0.4 | ||||
| Japan | IPAH and HPAH | Present (N = 26) | 1/4.8 | 35±13 | 57.7±14.5 | 19.1±7.3* | 1.9±0.5 | - | Isobe [28] |
| Absent (N = 36) | 1/1.8 | 34±11 | 55.7±15.1 | 16.9±9.0* | 2.2±1.0 | ||||
| Japan | IPAH and HPAH | Present (N = 18) | 1/2.2 | 37.4±12.7 | 60.8±15.4 | 21.5±9.4 | - | 18 | Kabata [19] |
| Absent (N = 31) | 1/1.7 | 25.9±11.3 | 58.8±12.0 | 18.6±8.6 | - | ||||
| China | IPAH and HPAH | Present (N = 50) | 1/1.3 | 28±2 | 67±6 | 17.1±2* | 2.0±0.2 | - | Liu [22] |
| Absent (N = 255) | 1/2.9 | 32±4 | 60±6 | 14.6±2* | 2.3±0.2 | ||||
| China | IPAH and HPAH | Present (N = 37) | 1/2.2 | 27.2±9.9 | 60.2±15.3 | 17.3±8.0 | 2.6±0.9 | 6 | Yang [24] |
| Absent (N = 154) | 1/1.7 | 31.6±10.5 | 54.9±14.7 | 13.0±5.2 | 3.0±0.9 | ||||
| US | IPAH and HPAH | Present (N = 41) | 1/2.2 | 36.1±1.4 | 58.6±1.7 | 18.1±2.0* | 1.9±0.1 | 74 | Austin [13] |
| Absent (N = 106) | 1/3.1 | 42±2.3 | 58.3±1.7 | 14.0±0.8* | 1.8±0.2 | ||||
| US | IPAH and HPAH | Present (N = 27) | 1/1.0 | 37.1±12.0 | 60.7±10.5 | 14.6±5.1 | 2.1±0.6 | 18 | Elliott [17] |
| Absent (N = 40) | 1/6.0 | 38.2±10.9 | 56.9±11.3 | 12.3±6.1 | 2.3±0.7 | ||||
| US | IPAH and HPAH | Present (N = 23) | - | - | 61±13 | 26±14 | 2.0±1.1 | 22 | Rosenzweig [16] |
| Absent (N = 124) | - | - | 59±20 | 21±14 | 2.4±1.5 | ||||
| France | IPAH and HPAH | Present (N = 68) | 1/2.0 | 36.5±14.5 | 64±13 | 17.4±6.1 | 2.1±0.7 | 16 | Sztrymf [15] |
| Absent (N = 155) | 1/2.6 | 46.0±16.1 | 56±13 | 12.7±6.6 | 2.5±0.7 | ||||
| Germany | IPAH and HPAH | Present (N = 49) | 1/1.9 | 38.5±11.8 | 62.6±9.9 | 28.8 ±9.6 | 1.7±0.3 | 10 | Pfarr [14] |
| Absent (N = 179) | 1/3.0 | 45.8±11.3 | 53.4±12.2 | 18.8±8.4 | 2.1±0.5 | ||||
| Meta-analysis | IPAH, HPAH, and anorexigen | Present (N = 448) | 1/3.2 | 35±15 | 60.5±13.8 | 16.6±8.3* | 2.1±0.7 | 15 | Evans [7] |
| Absent (N = 1102) | 1/3.6 | 42±18 | 56.4±15.3 | 12.9±8.3* | 2.5±0.9 |
Abbreviations: BMPR2, bone morphogenetic protein receptor type 2; mPAP, mean pulmonary arterial pressure; PAWP, pulmonary artery wedge pressure; PVRI, pulmonary vascular resistance index; CI, confidence interval; IPAH, idiopathic pulmonary arterial hypertension; HPAH, heritable pulmonary arterial hypertension
*Pulmonary vascular resistance is presented due to the lack of data regarding pulmonary vascular resistance index (units: mmHg/L/min)